Incidental Mutation 'IGL03091:Rdh16'
ID418395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh16
Ensembl Gene ENSMUSG00000069456
Gene Nameretinol dehydrogenase 16
SynonymsRdh6, CRAD1, cis-retinol/androgen dehydrogenase 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03091
Quality Score
Status
Chromosome10
Chromosomal Location127801152-127846565 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to C at 127813633 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071646] [ENSMUST00000125163] [ENSMUST00000155739]
Predicted Effect probably benign
Transcript: ENSMUST00000071646
SMART Domains Protein: ENSMUSP00000071573
Gene: ENSMUSG00000069456

DomainStartEndE-ValueType
Pfam:adh_short 30 220 5.9e-42 PFAM
Pfam:DUF1776 43 303 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125163
Predicted Effect probably benign
Transcript: ENSMUST00000155739
SMART Domains Protein: ENSMUSP00000115993
Gene: ENSMUSG00000069456

DomainStartEndE-ValueType
Pfam:adh_short 30 107 3.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 A T 4: 126,459,189 Y314N probably damaging Het
Aknad1 A G 3: 108,751,903 T78A possibly damaging Het
Arhgap33 G A 7: 30,528,293 P494S probably damaging Het
Babam2 T A 5: 31,785,678 probably null Het
Ces2g T C 8: 104,964,754 V174A probably damaging Het
Chd1l G A 3: 97,563,547 R811C probably damaging Het
Crot A T 5: 8,966,897 H598Q probably benign Het
Dtx2 C T 5: 136,012,374 S211L probably damaging Het
Duox2 T G 2: 122,289,474 M852L probably benign Het
Fmc1 G T 6: 38,539,235 S72I probably damaging Het
Fut1 T C 7: 45,619,527 C302R probably damaging Het
Gm6401 T C 14: 41,964,658 T184A possibly damaging Het
Gsdma2 C T 11: 98,652,002 T29I probably damaging Het
Lgi2 C A 5: 52,563,965 probably null Het
Lipe A G 7: 25,380,755 L926P probably damaging Het
Lrp1 T A 10: 127,559,124 I2511F probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Nbea A G 3: 56,085,304 S294P probably damaging Het
Neb T A 2: 52,271,312 H2156L probably benign Het
Neo1 A T 9: 58,978,668 N335K probably damaging Het
Nox3 G T 17: 3,665,844 Q429K probably benign Het
Pkd1l1 T C 11: 8,855,564 R1671G probably damaging Het
Plec T C 15: 76,189,303 T504A possibly damaging Het
Pou5f1 G T 17: 35,510,042 R127L probably benign Het
Prkdc T A 16: 15,705,310 probably benign Het
Rassf8 T A 6: 145,815,810 N287K probably benign Het
Ryr1 G A 7: 29,083,486 A1901V possibly damaging Het
Scnn1g A G 7: 121,746,683 Y343C probably damaging Het
Sema5a A G 15: 32,538,734 probably benign Het
Slc9b2 G A 3: 135,329,030 V310M probably damaging Het
Stox2 T A 8: 47,193,187 I477F possibly damaging Het
Terb1 A T 8: 104,469,154 H548Q probably benign Het
Tsks G A 7: 44,957,895 M547I possibly damaging Het
Ttc25 T A 11: 100,550,250 Y102* probably null Het
Tuba8 G A 6: 121,220,444 E22K probably damaging Het
Wee2 T C 6: 40,462,034 F364L probably benign Het
Zfp644 A G 5: 106,636,858 Y608H probably damaging Het
Other mutations in Rdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Rdh16 APN 10 127813496 missense probably benign 0.01
IGL01618:Rdh16 APN 10 127801307 missense probably damaging 1.00
IGL02125:Rdh16 APN 10 127811319 intron probably benign
IGL02820:Rdh16 APN 10 127813601 missense probably benign 0.01
R1674:Rdh16 UTSW 10 127801357 missense probably benign 0.25
R4616:Rdh16 UTSW 10 127801513 splice site probably null
R4675:Rdh16 UTSW 10 127801447 missense probably damaging 1.00
R5324:Rdh16 UTSW 10 127801267 missense probably damaging 0.99
R7191:Rdh16 UTSW 10 127813418 missense probably benign 0.00
X0013:Rdh16 UTSW 10 127801330 missense probably damaging 1.00
X0066:Rdh16 UTSW 10 127801330 missense probably damaging 1.00
Posted On2016-08-02